ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA108091
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
49479
ClinVar RCV Id:
RCV000042739
RCV000412893
RCV001036250
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000539.2:p.Tyr1549Cys
CA020809
NM_000548.5:c.4646A>G